Preferential expression of mutant <it>ABCD1 </it>allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

by Salsano Ettore, Tabano Silvia, Sirchia Silvia M, Colapietro Patrizia, Castellotti Barbara, Gellera Cinzia, Rimoldi Marco, Pensato Viviana, Mariotti Caterina, Pareyson Davide, Miozzo Monica, Uziel Graziella
Published 2012-01-01

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological ph...

by Finelli Palma, Sirchia Silvia, Masciadri Maura, Crippa Milena, Recalcati Maria, Rusconi Daniela, Giardino Daniela, Monti Laura, Cogliati Francesca, Faravelli Francesca, Natacci Federica, Zoccante Leonardo, Bernardina Bernardo, Russo Silvia, Larizza Lidia
Published 2012-04-01